P277L (p.Pro277Leu) variant of MEN1 (Menin)
P277L (p.Pro277Leu) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P277L (p.Pro277Leu) variant details
- p.Pro277Leu
- rs1060499973
- ClinGen CA381183763
- ClinVar RCV000539049
- ClinVar RCV001811031
- Uncertain significance
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)